Polyneuropathies caused by Hereditary transthyretin-mediated amyloidosis
Hereditary transthyretin-mediated amyloidosis and Polyneuropathy:
Hereditary transthyretin-mediated amyloidosis (ATTR) is a progressive condition that is caused by a genetic mutation, and results in the misfolding of the protein transthyretin (TTR) and the resulting accumulation of amyloid proteins in the body.
In addition to causing cardiac and renal problems, ATTR can also lead to polyneuropathy, or a peripheral nerve disorder. This condition presents itself with a range of symptoms, including pain, numbness, tingling, difficulty walking, fatigue, weakness, and balance problems. These symptoms are caused by the build-up of amyloid fibrils in nerve fibers, leading to a range of both small-fiber and large-fiber polyneuropathy.
Studies of ATTR have identified a range of factors that can increase the risk of developing polyneuropathy, including age, TTR mutation type, presence of abdominal fat, and plasma levels of TTR protein and amyloid beta. Treatment for polyneuropathy can vary depending on the cause and severity of the condition. Treatment options often include medications to control symptoms, physical therapy, and lifestyle changes.
Causes of Polyneuropathy in ATTR:
- A buildup of amyloid proteins caused by mutation of the TTR gene
- The accumulation of these amyloid proteins in the peripheral nerves, leading to nerve damage
- A decrease in motor function due to nerve damage
- A decrease in sensory function due to nerve damage
- Presence of abdominal fat
- Plasma levels of TTR protein and amyloid beta
- Increasing age
- Specific TTR mutation type
Treatment for Polyneuropathy in ATTR:
- Medications to control symptoms
- Physical therapy to improve strength and coordination
- Lifestyle changes to improve nutrition and activity
- Alternative therapies such as acupuncture and massage
- Surgery to help alleviate nerve compression
- Nutritional supplements to improve nerve health